Yamashita Michiko, Kamei Yoshiaki, Murakami Akari, Ozaki Erina, Okujima Kumiko, Takemoto Kana, Takaoka Megumi, Tsukamoto Daiki, Kusakabe Erina, Shidahara Tomoyuki, Noda Haruna, Aoki Reina, Taguchi Kana, Nishiyama Kanako, Eguchi Mariko, Takada Yasutsugu
Department of Breast Center, Ehime University Hospital, Shitsukawa, Toon, Ehime, Japan.
Department of Hepato-Biliary-Pancreatic Surgery and Breast Surgery, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan.
Hered Cancer Clin Pract. 2021 Jan 6;19(1):3. doi: 10.1186/s13053-020-00162-x.
Metaplastic carcinoma of the breast consists of both invasive ductal carcinoma and metaplastic carcinoma. This rare subtype of cancer has a poor prognosis. The development of metaplastic breast cancer and relationship with BRCA1 are not well known. Here, we report a rare case of germline BRCA1 mutation-positive breast cancer with chondroid metaplasia.
A 39-year-old Japanese woman with a family history of breast cancer in her mother and ovarian cancer in her maternal grandmother consulted at our hospital with a left breast mass. Needle biopsy for the mass was performed, leading to a diagnosis of invasive breast cancer with chondroid metaplasia. We performed left mastectomy + sentinel lymph node biopsy + tissue expander insertion and replaced with a silicone implant later. Pathological examination revealed that the patient had triple-negative breast cancer. Four courses of doxorubicin+ cyclophosphamide therapy were performed as adjuvant therapy after surgery. We performed genetic counseling and genetic testing, and the results suggested the germline BRCA1 mutation 307 T> A (L63*). She has currently lived without a relapse for 2 years post-surgery.
There have been only 6 cases of metaplastic breast carcinoma with germline BRCA1 mutations including our case. Patients with BRCA1 mutations may develop basal-like subtypes or M type of triple-negative breast cancer besides metaplastic breast cancers.
乳腺化生性癌由浸润性导管癌和化生性癌组成。这种罕见的癌症亚型预后较差。乳腺化生性癌的发生及其与BRCA1的关系尚不清楚。在此，我们报告一例罕见的伴有软骨样化生的胚系BRCA1突变阳性乳腺癌病例。
一名39岁的日本女性因左乳肿块前来我院就诊，其母亲有乳腺癌家族史，外祖母有卵巢癌家族史。对肿块进行了针吸活检，诊断为伴有软骨样化生的浸润性乳腺癌。我们实施了左乳房切除术+前哨淋巴结活检+组织扩张器植入术，随后更换为硅胶植入物。病理检查显示患者为三阴性乳腺癌。术后进行了四个疗程的阿霉素+环磷酰胺辅助治疗。我们进行了遗传咨询和基因检测，结果提示胚系BRCA1突变307T>A（L63*）。她目前术后已无复发存活2年。
包括我们的病例在内，仅有6例伴有胚系BRCA1突变的乳腺化生性癌病例。除乳腺化生性癌外，BRCA1突变患者可能会发生基底样亚型或三阴性乳腺癌的M型。
